Allele Registry

Canonical Allele Identifier: PA116725

Gene: FKRP HGNC NCBI

ClinVar RCV:

RCV000004454

RCV000004455

RCV000494504

RCV000805125

RCV000844942

RCV003488324

ClinVar Variation:

4233

HGVS (amino-acid)	Matching Registered Transcripts
NP_077277.1:p.Tyr307Asn	CA116724 NM_024301.5:c.919T>A